Enhancing impact: visualization of an integrated impact assessment strategy

The environmental impact assessment process is over 40 years old and has dramatically expanded. Topics, such as social, health and human rights impact are now included. The main body of an impact analysis is generally hundreds of pages long and supported by countless technical appendices. For large, oil/gas, mining and water resources projects both the volume and technical sophistication of the reports has far exceeded the processing ability of host communities. Instead of informing and empowering, the reports are abstruse and overwhelming. Reinvention is required. The development of a visual integrated impact assessment strategy that utilizes remote sensing and spatial analyses is describe

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

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Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

Approximately 10 % of all cutaneous melanoma cases occur in a familial context. the major susceptibility gene for familial melanoma is CDKN2A. in Latin America, genetic studies investigating melanoma predisposition are scarce. the aim of this work was to investigate germline CDKN2A point mutations and genomic rearrangements in a cohort of 59 Brazilian melanoma-prone patients. Screening of CDKN2A alterations was performed by sequencing and multiplex ligation probe amplification. Germline CDKN2A mutations affecting p16(INK4a) were detected in 8 unrelated probands (13.6 %), including 7 familial cases and one patient with multiple melanomas; 4 out of 8 mutation carriers met the criteria for familial melanoma and had multiple primary lesions. Although this study adds to the literature on melanoma susceptibility in Latin America, it is limited by the small size of the cohort. Our findings suggest that stringent inclusion criteria led to a substantially increased rate of CDKN2A mutation detection. This consideration should be taken into account when referring patients for genetic screening in a setting of limited budget, such as in developing countries.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Brazilian National Institute of Science and Technology in OncogenomicsAC Camargo Canc Ctr, Dept Skin Canc, São Paulo, BrazilAC Camargo Canc Ctr, Int Res Ctr, Lab Genom & Mol Biol, São Paulo, BrazilNatl Inst Sci & Technol Oncogen, São Paulo, BrazilAC Camargo Canc Ctr, Dept Oncogenet, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, Escola Paulista Med, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, Escola Paulista Med, São Paulo, BrazilFAPESP: 2007/04313-2Brazilian National Institute of Science and Technology in Oncogenomics: FAPESP 2008/57887-9Brazilian National Institute of Science and Technology in Oncogenomics: CNPq 573589/08-9Web of Scienc